Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q08920

Entry ID Method Resolution Chain Position Source
6N7P EM 360 A Y 1-208 PDB
AF-Q08920-F1 Predicted AlphaFoldDB

6 variants for Q08920

Variant ID(s) Position Change Description Diseaes Association Provenance
s16-212434 93 I>K No SGRP
s16-212436 94 Y>N No SGRP
s16-212511 119 I>V No SGRP
s16-212627 157 I>M No SGRP
s16-212703 183 I>V No SGRP
s16-212772 206 V>I No SGRP

4 associated diseases with Q08920

[MIM: 614497]: Microphthalmia, isolated, with coloboma, 7 (MCOPCB7)

A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269|PubMed:22226084}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 615402]: Dyschromatosis universalis hereditaria 3 (DUH3)

An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269|PubMed:23519333, ECO:0000269|PubMed:24224009, ECO:0000269|PubMed:24498303, ECO:0000269|PubMed:25288164, ECO:0000269|PubMed:29940187}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 609153]: Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2)

A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape. {ECO:0000269|PubMed:23180570, ECO:0000269|PubMed:24947683}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269|PubMed:22226084}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269|PubMed:23519333, ECO:0000269|PubMed:24224009, ECO:0000269|PubMed:24498303, ECO:0000269|PubMed:25288164, ECO:0000269|PubMed:29940187}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape. {ECO:0000269|PubMed:23180570, ECO:0000269|PubMed:24947683}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q08920

Type Name Position InterPro Accession
domain Calcineurin-like phosphoesterase domain, ApaH type 4 - 179 IPR004843

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm, perinuclear region
  • Predominantly nuclear, is able to exit the nucleus in an RNA-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
commitment complex A spliceosomal complex that is formed by association of the U1 snRNP with the 5' splice site of an unspliced intron in an RNA transcript.
mRNA cap binding complex Any protein complex that binds to an mRNA cap at any time in the lifetime of the mRNA.
nuclear cap binding complex A conserved heterodimeric protein complex that binds to the 5' terminal cap structure m7G(5')ppp(5')N of nascent eukaryotic RNA polymerase II transcripts such as pre-mRNA and U snRNA. The consists of proteins known as CBP20 and CBP80, binds to cap structures in the nucleus, and is involved in pre-mRNA splicing, 3'-end formation, and RNA nuclear export.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.

1 GO annotations of molecular function

Name Definition
RNA cap binding Binding to a 7-methylguanosine (m7G) group or derivative located at the 5' end of an RNA molecule.

9 GO annotations of biological process

Name Definition
mRNA 3'-end processing Any process involved in forming the mature 3' end of an mRNA molecule.
mRNA cis splicing, via spliceosome The joining together, after removal of an intervening sequence composed of one or more introns, of two segments of the same RNA molecule via spliceosomal catalysis to produce an mRNA composed only of exon sequences that all came from the same primary transcript.
mRNA export from nucleus The directed movement of mRNA from the nucleus to the cytoplasm.
mRNA splicing, via spliceosome The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
mRNA transcription by RNA polymerase II The cellular synthesis of messenger RNA (mRNA) from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter.
nuclear-transcribed mRNA catabolic process The chemical reactions and pathways resulting in the breakdown of nuclear-transcribed mRNAs in eukaryotic cells.
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins.
primary miRNA processing A process involved in the conversion of a primary microRNA transcript into a pre-microRNA molecule.
response to osmotic stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5ZKR5 NCBP2 Nuclear cap-binding protein subunit 2 Gallus gallus (Chicken) PR
P52298 NCBP2 Nuclear cap-binding protein subunit 2 Homo sapiens (Human) PR
Q9CQ49 Ncbp2 Nuclear cap-binding protein subunit 2 Mus musculus (Mouse) PR
B1WC40 Ncbp2 Nuclear cap-binding protein subunit 2 Rattus norvegicus (Rat) PR
Q93594 ncbp-2 Nuclear cap-binding protein subunit 2 Caenorhabditis elegans PR
Q6DES0 ncbp2 Nuclear cap-binding protein subunit 2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q8JGR6 ncbp2 Nuclear cap-binding protein subunit 2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSLEEFDEVK YDHSTKRLDT PSRYLLRKAR RNPNGLQELR ESMKSSTIYV GNLSFYTSEE
70 80 90 100 110 120
QIYELFSKCG TIKRIIMGLD RFKFTPCGFC FIIYSCPDEA LNALKYLSDT KLDEKTITID
130 140 150 160 170 180
LDPGFEDGRQ FGRGKSGGQV SDELRFDFDA SRGGFAIPFA ERVGVPHSRF DNSSSQSNTN
190 200
NYIPPPDAMG TFRPGFDEER EDDNYVPQ